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DNM1

dynamin 1

HCNC Approved Symbol
DNM1 (HGNC:2972)
Genomic Coordinates
9:128,203,379 - 128,255,244 (9q34.11)
Synonyms
DNM
Disease Associations
This gene is associated with the following 2 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Developmental and epileptic encephalopathy 31A, autosomal dominant
616346AD
Developmental and epileptic encephalopathy 31B, autosomal recessive
620352AR

Diagnosed Cases

14Patients

In total, 14 patients were diagnosed with a variant in the DNM1 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Epilepsy
 5 (35.7%)
Developmental delay
 4 (28.6%)
Global developmental delay
 3 (21.4%)
Seizures
 3 (21.4%)
Developmental regression
 
2 (14.3%)